Inherited Disorders of Carbohydrate Metabolism - Glycogen Storage Diseases and Deficiencies of Monosaccharide Metabolism (eBook, PDF)
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The inherited disorders of carbohydrate metabolism are rare and belong to what are termed orphan diseases. With the exception of galactosaemia I, none of these diseases is among the target group of extended neonatal screening. Affected individuals with such a rare disorder therefore depend on their doctors' knowledge for the diagnosis and treatment of diseases accompanied by very different symptoms. In general, however, doctors have hardly been given any information about this specialist area during their training. Moreover, it is currently difficult to then quickly become familiar with this a...
The inherited disorders of carbohydrate metabolism are rare and belong to what are termed orphan diseases. With the exception of galactosaemia I, none of these diseases is among the target group of extended neonatal screening. Affected individuals with such a rare disorder therefore depend on their doctors' knowledge for the diagnosis and treatment of diseases accompanied by very different symptoms. In general, however, doctors have hardly been given any information about this specialist area during their training. Moreover, it is currently difficult to then quickly become familiar with this area since, apart from isolated case reports in journals, there is no comprehensive literature providing an overview. This book aims to close this gap and to give colleagues interested in this subject the chance to find out about them and to be given instructions on how to go about diagnosing and treating disorders of carbohydrate metabolism.
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